Version 2.78

Description

The OTC gene (ornithine carbamoyltransferase) [HGNC Gene ID:8512] is located on chromosome Xp21.1. This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008] [NCBI Gene ID:5009] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
OTC gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
OTC gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19751-4
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19751-4

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) OTC 基因
Synonyms: OTC 缺乏病;OTC 缺乏症;鸟氨酸氨基甲酰转移酶（ornithine transcarbamylase, OTC）缺乏症;鸟氨酸氨基甲酰转移酶基因;鸟氨酸氨基甲酰转移酶缺乏症
et-EE Estonian (Estonia) OTC geen
es-ES Spanish (Spain) Gen OTC
it-IT Italian (Italy) OTC, gene
Synonyms: Gene OTC
tr-TR Turkish (Turkey) OTC geni
ru-RU Russian (Russian Federation) OTC ген
nl-NL Dutch (Netherlands) OTC-gen
Synonyms: OTC gen